Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results.
OBJECTIVE
To analyse the level of adherence to prophylactic surgery of breast and/or ovarian cancer in female carriers of the BRCA1 or BRCA2 mutation in a referential genetic counselling unit in Spain.


METHODS
Between January 1998 and November 2006, a total of 684 families with several cases of breast and/or ovarian cancer were selected by the Genetic Counselling Unit at the Hospital Clínico Universitario San Carlos. Some of them opted for prophylactic surgery after genetic counselling and genetic testing.


RESULTS
The pathogenic mutation was found in 57 families out of a total of 449 families who fulfilled the hereditary breast/ovarian cancer criteria. Out of a total of 238 individuals who were carriers of the mutation, 136 (57%) were offered risk-reducing prophylactic surgery. Prophylactic surgery was chosen by 58 (43%) women out of a total of 136 who were offered this possibility; the histological findings observed 7% malignant lesions in the breast and, in the ovarian-fallopian complex, 2 cases (8%) of a borderline tumour and one case (4%) of papillary adenocarcinoma.


CONCLUSIONS
This is the first study published on the role of prophylactic surgery in BRCA mutation carriers in the Spanish population. The incidence of occult carcinoma in these cases is lower than in other series.
Pérez Segura
Pedro
P
Medical Oncology Department (Genetic Counselling Unit), Hospital Clínico San Carlos, Madrid, Spain. perezsegura@yahoo.com
Jiménez
Paula
P
Olivera
Helena
H
Andrés Conejero
Raquel
R
Caldés
Trinidad
T
de la Hoya
Miguel
M
Román
Jose María
JM
Moreno
Arancha
A
Puente
Javier
J
Díaz-Rubio
Eduardo
E
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D002277:Carcinoma / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D005190:Family; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling / Q000523:psychology / Q000706:statistics & numerical data; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D010349:Patient Compliance / Q000706:statistics & numerical data*; D011153:Population; D011315:Preventive Medicine / Q000379:methods; D013030:Spain